Linked Data
ClinVar Variation Id:
2421553
ClinVar RCV Id:
RCV003115854
dbSNP Id:
rs879592387
gnomAD v2:
12-13724788-T-G
gnomAD v4:
12-13571854-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13571854T>G , CM000674.2:g.13571854T>G | GRCh38 |
| NC_000012.11:g.13724788T>G , CM000674.1:g.13724788T>G | GRCh37 |
| NC_000012.10:g.13616055T>G | NCBI36 |
| NG_031854.1:g.413235A>C | |
| NG_031854.2:g.415159A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.2121A>C MANE Select | ENSP00000477455.1:p.Gly707= | |
| ENST00000628166.2:n.381A>C | ||
| ENST00000637214.1:c.69+36749A>C | ENSP00000489997.1:n.69+36749A>C | |
| ENST00000609686.3:c.2121A>C | ENSP00000477455.1:p.Gly707= | |
| ENST00000628166.1:n.381A>C | ||
| NM_000834.3:c.2121A>C | NP_000825.2:p.Gly707= | |
| XM_005253351.2:c.-43-1837A>C | XP_005253408.1:n.-43-1837A>C | |
| XM_011520628.1:c.2121A>C | XP_011518930.1:p.Gly707= | |
| XM_011520629.1:c.2121A>C | XP_011518931.1:p.Gly707= | |
| XM_011520630.1:c.2121A>C | XP_011518932.1:p.Gly707= | |
| NM_000834.4:c.2121A>C | NP_000825.2:p.Gly707= | |
| XM_005253351.3:c.-43-1837A>C | XP_005253408.1:n.-43-1837A>C | |
| XM_011520628.2:c.2121A>C | XP_011518930.1:p.Gly707= | |
| XM_011520629.2:c.2121A>C | XP_011518931.1:p.Gly707= | |
| XM_017019219.2:c.2121A>C | XP_016874708.1:p.Gly707= | |
| NM_000834.5:c.2121A>C MANE Select | NP_000825.2:p.Gly707= |